Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy
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DOI: 10.1038/s41598-017-14771-5
Abstract: Point mutations in the peripheral myelin protein 22 (PMP22) gene have been identified to cause demyelinating Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsy (HNPP). To investigate the mutation spectrum of PMP22… read more here.
Keywords: demyelinating cmt; point mutations; pmp22; hnpp like ... See more keywords